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Items: 3

1.

Hyaline fibromatosis syndrome

Inherited systemic hyalinosis is characterized by hyaline deposits in the papillary dermis and other tissues. It typically presents at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) die in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood. [from GeneReviews]

MedGen UID:
411197
Concept ID:
C2745948
Disease or Syndrome
2.

Juvenile Hyaline Fibromatosis

Juvenile hyaline fibromatosis has a delayed onset of the similar but milder symptoms and improved survivability into juveniles. [from MeSH]

MedGen UID:
140805
Concept ID:
C0406578
Disease or Syndrome
3.

Infantile systemic hyalinosis

Infantile systemic hyalinosis is additionally characterized by infantile onset painful thickened skin, hyperpigmentation over joints, and increased susceptibility to bone fractures. Early childhood death due to severe diarrhea and recurrent infections are common. [from MeSH]

MedGen UID:
96062
Concept ID:
C0406582
Disease or Syndrome
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